1.Analysis of serological and molecular genetic characteristics of a Chinese pedigree with a B(A)06 subtype.
Dongdong TIAN ; Ding ZHAO ; Wei LI ; Zhihao LI ; Jiali YANG ; Yongfang ZHANG ; Liuchuang ZHENG
Chinese Journal of Medical Genetics 2026;43(3):220-227
OBJECTIVE:
To explore the serological and molecular genetic characteristics of a family with subtype B(A)06.
METHODS:
A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036).
RESULTS:
The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family.
CONCLUSION
The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans
;
ABO Blood-Group System/genetics*
;
Female
;
Pedigree
;
Male
;
Infant, Newborn
;
Asian People/genetics*
;
Genotype
;
China
;
Blood Grouping and Crossmatching
;
Hyperbilirubinemia, Neonatal/blood*
;
East Asian People
2.Undiagnosed 33-Year-Old Filipino male HIV case presenting initially as stroke in the young: A case report.
Samantha Karla Dv INONCILLO ; Joseree-ann S. CATINDIG ; Maria Rhona M. BERGANTIN
Journal of Medicine University of Santo Tomas 2026;10(1):1913-1917
Cerebrovascular disease is uncommon in patients with HIV, occurring in up to 1.9% of patients, 0.2% were presenting with transient ischemic attacks. The central nervous system is the first part of the body to be affected by the human immunodeficiency virus. This case report is a unique presentation of a 33-year-old male who presented with focal neurologic deficits that lasted for one hour with a background of promiscuous history. The patient was positive for HIV screening test and CD4 count and was started on a combination of antiretroviral therapy. This is the first documented case report in the Philippines. This case report demonstrates the need for a high index of suspicion for early detection of the cause in HIV-positive patients with recurrent transient ischemic attacks, given the high morbidity and mortality that is associated with this condition if delayed or undiagnosed.
Human ; Male ; Adult: 25-44 Yrs Old ; Neurologic Manifestations ; Cerebrovascular Disorders ; Nervous System ; Central Nervous System ; Cd4 Lymphocyte Count
3.Expert Opinion on the Management of Hyperkalemia in Patients with Cardiorenal Diseases Treated with Renin Angiotensin Aldosterone System Inhibitors: An Indonesian Perspective
Pringgodigdo Nugroho ; Aida Lydia ; Haerani Abdul Rasyid ; Zulkhair Ali ; Pranawa Pranawa ; Nyoman Paramita Ayu ; Birry Karim ; Erwin Sukandi ; Siti Elkana Nauli ; Hary Sakti Muliawan ; Edrian Zulkarnain
Acta Medica Indonesiana 2026;58(1):123-132
Abstract
Hyperkalemia (serum potassium >5.0 mEq/l) is a significant complication in patients with heart failure, chronic kidney disease, and diabetes mellitus, particularly when treated with renin-angiotensin-aldosterone system inhibitors (RAASi). Both hyperkalemia and RAASi interruption are associated with increased cardiovascular events, hospitalizations, and mortality. This expert opinion document, developed between January and December 2024 through a systematic process, aims to establish guidance for hyperkalemia treatment in Indonesian patients with cardiorenal diseases receiving RAASi therapy, addressing the unique challenges within the Indonesian healthcare context. A comprehensive literature review of international guidelines and regional studies was conducted by a panel of 11 expert specialists (3 cardiologists, 6 internist-nephrologists, and 2 internist-cardiologists), who evaluated 29 statements covering diagnosis, monitoring, prevention, and treatment of hyperkalemia. Of the 29 statements, 26 reached consensus: 17 statements achieved very high agreement (≥90%) and 9 attained high agreement (≥67% – <90%). The agreed statements covered key areas, including potassium monitoring frequency, RAASi dose optimization strategies, dietary modifications, and treatment thresholds. Three statements regarding alternative therapeutic approaches did not receive agreement (<67%) due to limited local availability and cost considerations. Key recommendations include structured monitoring protocols for high-risk patients, strategies for RAASi dose optimization while managing hyperkalemia risk, and specific interventions adapted to local resources. This document provides a practical approach for managing hyperkalemia in Indonesian patients with cardiorenal diseases while maintaining optimal RAASi therapy, considering local Indonesian healthcare resources and constraints.
Hyperkalemia
;
Cardio-Renal Syndrome
;
Renin-Angiotensin System
;
Indonesia
4.When Puberty Comes Too Soon: Central Precocious Puberty with Pituitary Microadenoma and Pineal Cyst
Fawza Nabila Faudzi ; Asmalaini Mohamad ; Nalini M. Selveindran
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):145-146
Introduction:
Central precocious puberty (CPP) is defined as premature
activation of the hypothalamic-pituitary-gonadal axis,
resulting in the development of secondary sexual
characteristics before 8 years of age in girls. While most
cases are idiopathic, intracranial pathologies such as
pituitary lesions may cause CPP. Early identification is
essential to optimize outcomes and minimize psychosocial
impact. We report a case of CPP associated with pituitary
microadenoma and pineal cyst from the Paediatric
Department, Hospital Sultanah Nur Zahirah.
Case:
A 4-year-old female presented with bilateral breast enlargement, with ultrasonography showing normal fibroglandular
tissue. Breast development was noted since 3 months of
age, with whitish vaginal discharge from 2 years. She
demonstrated accelerated growth, with height and weight
above the 95th centile. There were no features suggestive
of peripheral causes or raised intracranial pressure.
Examination revealed Tanner stage A1B3P2. Bone age was
markedly advanced (11 years vs. chronological age 4 years). Hormonal evaluation showed elevated LH (3.28 IU/L) and
follicle-stimulating hormone (4.79 IU/L), consistent with
CPP. MRI demonstrated focal delayed enhancement in
the posterolateral pituitary suggestive of microadenoma,
and an incidental pineal cyst without complex features.
Ophthalmological assessment was normal. Neurosurgical
evaluation advised conservative management with annual
imaging surveillance. Intramuscular Triptorelin was
initiated at 4 years 1 month. Follow-up showed regression
of pubertal progression, resolution of vaginal discharge,
and reduced growth velocity to 6 cm/year.
Conclusion
This case highlights the importance of thorough evaluation
in CPP to identify underlying intracranial pathology.
Early initiation of gonadotropin-releasing hormone
analog therapy effectively halts pubertal progression and
preserves growth potential.
Central Nervous System Cysts
;
Puberty
5.Cultural adaptation and validation of the Indonesian version of Composite Autonomic Symptom Score-31
Widya Christine Manus ; Lothar Matheus Manson Vanende Silalahi ; Lise Insani Gulo ; The Maria Meiwati Widagdo
Medical Journal of Indonesia 2026;35(3):195-200
BACKGROUND :
The prevalence of autonomic nervous system disorders is increasing due to the complications of chronic illnesses that become more severe with age. The Composite Autonomic Symptom Score-31 (COMPASS-31) is a questionnaire that assesses autonomic function and has been utilized globally. This study aimed to conduct cultural adaptation and validation of the COMPASS-31 in Indonesia, particularly for the elderly.
METHODS :
This cross-sectional study involved elderly individuals aged 60 years and older. The process included translation, cultural adaptation, back-translation, and reliability tests. The COMPASS-31 questionnaire was translated from English to Indonesian by a certified translator, a native Indonesian speaker without medical background. A panel of experts comprising a neurologist, a gerontologist, and a physiologist discussed the translated questionnaire and made cultural adaptations. Facial and content validity tests were conducted on 11 elderly individuals. The inputs for revision are discussed by the expert panel. The questionnaire was then back-translated into English by a native English speaker, professional translator, without a medical background. The questionnaire was checked for reliability in 52 elderly subjects. Reliability testing was conducted separately for the binomial and polynomial questions of the COMPASS-31 questionnaire.
RESULTS :
The reliability test yielded a Cronbach’s alpha of 0.729 for the binomial questions and 0.722 for the polynomial questions, indicating high reliability.
CONCLUSIONS
The Indonesian version of COMPASS-31 questionnaire is a valid and reliable symptom assessment tool for use in the elderly.
aging
;
autonomic disorders
;
autonomic nervous system diseases
;
surveys and questionnaires
6.Perioperative complications associated with routine preoperative glucocorticoid use among patients undergoing pituitary surgery with normal preoperative HPA axis: A retrospective cohort study
Franz Michael Magnaye ; Elizabeth Paz-pacheco
Journal of the ASEAN Federation of Endocrine Societies 2025;40(1):89-96
OBJECTIVE
This study determined the incidence of perioperative complications associated with routine preoperative glucocorticoid use in patients undergoing pituitary surgery with normal preoperative hypothalamo-pituitary-adrenal axis (HPA axis).
METHODOLOGYFrom 2011-2021 retrospective chart review, 243 patients undergoing pituitary surgery with normal preoperative HPA axis were analyzed into 2 groups: 1) with preoperative steroids and 2) without preoperative steroids. Development of postoperative complications was subsequently evaluated.
RESULTSIncidence of primary composite postoperative complications of in-hospital mortality, postoperative infection and postoperative diabetes insipidus (DI) was significantly increased among those who had preoperative steroids compared to those without (58.33% versus 33.33%, p-value 0.004) with an adjusted odds ratio of 2.90 (CI 1.29 to 6.53, p-value 0.010). Among the components of the composite outcome, post-operative DI was statistically higher among those who were given preoperative steroids (52.45% versus 28.21%, p-value 0.006) with an adjusted OR of 3.31 (CI 1.43 to 7.67, p-value 0.005). The incidence of postoperative adrenal insufficiency was similar between the 2 groups (20.15% with steroids versus 8.70% without steroids, p-value 0.258).
CONCLUSIONAmong patients with normal preoperative HPA axis, the routine use of preoperative steroids is associated with an increased risk of composite postoperative complications (in-hospital mortality, postoperative infection and postoperative DI). Steroid-sparing protocol is not associated with an increased risk of postoperative AI. The findings will encourage more rational use of steroids and minimize preventable complications.
Human ; Pituitary-adrenal System ; Pituitary Gland ; Postoperative Complications ; Glucocorticoids ; Steroids
7.Pregabalin, a neuropathic drug used as an antitussive in a pediatric child with acute cough: A case report
Rosalee E. Gonzales ; Francis O. Javier ; Josh Nathan L. Ngai
Journal of the Philippine Medical Association 2025;103(2):90-94
Cough is a very common symptom causing medical consult. Several remedies are readily available in the market however these are currently not recommended among the pediatric population due to a few reasons which include the benign nature of acute cough, limited effectivity and lack of support from the United States Food and Drug Administration (USFDA) due to abuse potential.
We report a case of a 2-year-old male, no known co-morbidities with a 2 week history of upper respiratory tract infection. Initial assessment showed viral infection hence patient was given medications for symptomatic treatment. However, l week after, patient still presented with symptomatic persistent coughing that disrupted his activities of daily living, hence antitussive medication was already prescribed. After another 7 days, there was still persistence of symptoms, hence patient was given a trial medication of Pregabalin 0.7 milligram/kg/dose which noted instant cough relief one hour after the initial intake. Patient also reported to be more playful, improved sleep at night and improved appetite. Patient received total of 2 doses of Pregabalin in the span of 48 hours. On the third day, patient was still coughing but reported to be significantly less frequent and more productive, hence medication was then put on hold. Patient continuously improved after 5 more days and was eventually cough free.
This case report demonstrates the adequacy of Pregabalin as a supportive antitussive medication in a patient with an acute cough secondary to a viral infection.
Human ; Male ; Child Preschool: 2-5 Yrs Old ; Cough ; Pregabalin ; Respiratory System ; Respiratory Tract Infections ; Virus Diseases ; Antitussive Agents
8.Comparison of acute heart rate variability (HRV) response between neuromuscular and metabolic training in collegiate high-intensity intermittent sport athletes: A pilot study protocol
Kris Anthony T. Agarao ; Edwin Dwight De Mesa ; Ivan Neil Gomez ; Angelica Phoebe Rane Mendinueto ; Aaron Miguel Ng ; Beatrice Therese Agustin ; Michael Kaleb Kim ; Sophia Anne Baetiong ; Reiniel Christian Rafael ; Jayemarie Gene Taguibao
Philippine Journal of Allied Health Sciences 2025;9(1):43-50
BACKGROUND
Heart rate variability (HRV) is a common tool for assessing autonomic nervous system activity and monitoring training load in athletes. However, limited research has explored how HRV responds to different forms of resistance training, particularly in high-intensity intermittent sports like basketball and football.
OBJECTIVEThis study aims to compare the acute HRV responses between neuromuscular and metabolic training in collegiate athletes involved in high-intensity intermittent sports.
STUDY DESIGNA comparative cross-sectional study with a quasi-experimental crossover design will be employed.
METHODSCollegiate athletes will be randomly assigned to undergo both neuromuscular and metabolic training sessions with a one-week wash-out period in between. HRV data will be recorded using the Polar H10 chest strap during each session.
DATA ANALYSISDescriptive statistics will summarize salient participant characteristics and HRV measurements. Inferential analysis will use paired t-tests or Wilcoxon signed-rank tests based on normality, assessed via the Kolmogorov-Smirnov test. All statistical analyses will be conducted using the IBM SPSS (ver.25) with a confidence interval set. at 95% and a critical α equal to 0.05.
EXPECTED RESULTSNeuromuscular training is expected to elicit higher low-frequency (LF) power and an increased LF/HF ratio, reflecting greater sympathetic activation, while metabolic training is expected to show lower LF power and a decreased LF/HF ratio, indicating a more balanced autonomic response. These findings will offer insights into the differential autonomic impacts of these training modalities.
Human ; Heart Rate ; Nervous System ; Sympathetic Nervous System
9.The acceptance and perspectives of traditional and alternative medicine among medical doctors
Yousef Tahamid Naeem ; Rasheda-mae Andiling Ynawat
Philippine Journal of Health Research and Development 2025;29(3):18-34
BACKGROUND
Traditional and alternative medicine (TAM) is increasingly recognized for its potential to complement conventional medicine. However, its acceptance and perspectives among medical doctors remain underexplored, particularly in Zamboanga City.
OBJECTIVETo assess the level of acceptance, perspectives, and reasons influencing medical doctors’ willingness or hesitancy to advise TAM.
METHODOLOGYDescriptive cross-sectional study conducted among 230 medical doctors from public and private institutions. Data were collected using a validated questionnaire and in-depth interviews. Quantitative data were analyzed using descriptive statistics, and qualitative data underwent thematic analysis.
RESULTS74.8% of respondents exhibited high acceptance of TAM, 21.3% were neutral, and 3.9% showed low acceptance. Most believed TAM could enhance patient satisfaction (53.48%) and improve quality of life (62.61%). However, 61.3% reported slight-to-moderate comfort in discussing TAM, and 43.91% rarely initiated such conversations. A majority (55.65%) supported TAM services being delivered by physicians trained in TAM alongside Department of Health-registered professionals, preferably integrated in primary care (38.26%) or hospital-based settings (30%). Willingness to advise TAM was driven by professional development opportunities (58.7%) and improved regulation (57.39%), whereas hesitancy stemmed from concerns about insufficient scientific evidence (65.65%) and lack of regulation (61.3%). Interest in TAM training was high (63.48%), particularly in acupuncture and herbal medicine. Thematic analysis identified key barriers (limited evidence, regulatory gaps, and training deficits) and facilitators (education, policy standardization, research, and educational curriculum integration).
CONCLUSIONStrong interest in TAM integration exists, contingent on training and regulatory improvements. Findings highlight the need for targeted education, policy reforms, and evidence generation to support evidence-based TAM inclusion in Philippine healthcare.
Human ; Complement System Proteins ; Complementary Therapies ; Medicine
10.Oral sildenafil for macrocystic lymphangioma in a Filipino child: A case report.
Ma. Denisse R. FERNANDEZ ; Maria Lourdes H. PALMERO
Journal of Medicine University of Santo Tomas 2025;9(2):1743-1748
Lymphangioma is a rare developmental anomaly of the lymphatic system, commonly arising at birth, in infancy, or early childhood. Treatment is rarely curative. We report a case of macrocystic lymphangioma treated with sildenafil in a 16-year-old Filipino child diagnosed clinically, radiologically and histologically. The patient presented with grouped papulovesicles on the left lower extremity, associated with limb length discrepancy, unilateral leg pain and difficulty in ambulation. Given the recurrent course of this condition, even with surgical management, the use of a non-invasive approach such as sildenafil as a potential treatment option for lymphangioma is an important emerging area of study.
Human ; Male ; Adolescent: 13-18 Yrs Old ; Lymphangioma ; Lymphatic System ; Sildenafil Citrate ; Parturition


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